Article
Urology & Nephrology
Amber de Haan, Chantal F. Morel, Mark Eijgelsheim, Margriet F. C. de Jong, Jan Broekroelofs, Liffert Vogt, Nine V. A. M. Knoers, Martin H. de Borst
Summary: Through massively parallel sequencing (MPS), we identified genetic variations associated with Fabry disease in two families. The study highlights the close relationship between GLA mutations and the phenotypic heterogeneity of Fabry disease, and emphasizes the importance of MPS in patients with unexplained kidney failure.
CLINICAL KIDNEY JOURNAL
(2023)
Article
Clinical Neurology
C. A. P. F. Alves, A. Zandifar, J. T. Peterson, S. Z. Tara, R. Ganetzky, A. N. Viaene, S. Andronikou, M. J. Falk, A. Vossough, A. C. Goldstein
Summary: This study identified two distinct patterns of MELAS: classic MELAS and atypical MELAS. Recognizing different patterns in MELAS presentations will help improve the understanding of the disease's natural history, prognosis, and identification of appropriate therapeutic interventions.
AMERICAN JOURNAL OF NEURORADIOLOGY
(2023)
Article
Neurosciences
Dmytro E. Duzhyy, Nana V. Voitenko, Pavel V. Belan
Summary: The study revealed that under peripheral inflammation conditions, the functional expression of acid-sensing ion channels and T-type Ca2+ channels in neurons increased, leading to enhanced neuronal excitability, which may contribute to chronic inflammatory pain.
FRONTIERS IN CELLULAR NEUROSCIENCE
(2021)
Article
Biology
Pengyao Jiang, Anja R. Ollodart, Vidha Sudhesh, Alan J. Herr, Maitreya J. Dunham, Kelley Harris
Summary: This study utilized natural polymorphisms to detect historical mutation spectrum differences among several wild and domesticated Saccharomyces cerevisiae strains. It found a 10-fold range of mutation rates and identified two strains with distinctive mutation spectra, indicating an enrichment for C > A mutations in certain strains. Additionally, a plasmid complementation test revealed that these strains share a mutator allele in the DNA repair gene OGG1, suggesting a potential underlying genetic cause for the observed mutation spectrum differences.
Article
Oncology
Dali Tong, Yao Zhang, Jun Jiang, Gang Bi
Summary: This study diagnosed a rare atypical VHL syndrome using CT scan, pathological and genetic examination methods. The patient had a confirmed VHL mutation associated with bilateral pheochromocytoma, lung carcinoid, and pancreatic neuroendocrine tumor. Based on literature reviews, octreotide-based radionuclide therapy was recommended for the patient, highlighting the relationship between VHL genotype and phenotype.
CANCER CELL INTERNATIONAL
(2021)
Article
Genetics & Heredity
Michele Lombardi, Lucia Corrado, Beatrice Piola, Cristoforo Comi, Roberto Cantello, Sandra D'Alfonso, Letizia Mazzini, Fabiola De Marchi
Summary: This paper describes the clinical features of ALS patients with TARDBP mutations and presents a review and analysis of relevant literature. The findings contribute to a better understanding of the association between TARDBP mutations and ALS.
Article
Geriatrics & Gerontology
Ilaria Martinelli, Elisabetta Zucchi, Viviana Pensato, Cinzia Gellera, Bryan J. Traynor, Giulia Gianferrari, Adriano Chio, Jessica Mandrioli
Summary: A large family with a missense mutation in the FUS gene has been reported, showing a tight association with an atypical FUS-ALS phenotype, indicating the pathogenicity of this mutation.
NEUROBIOLOGY OF AGING
(2022)
Article
Clinical Neurology
Paulo Jose Lorenzoni, Dafne Luana Bayer, Renata Dal-Pra Ducci, Otto Jesus Hernandez Fustes, Paula Raquel do Vale Pascoal Rodrigues, Lineu Cesar Werneck, Claudia Suemi Kamoi Kay, Rosana Herminia Scola
Summary: We present a case of early-onset hereditary sensory and autonomic neuropathy type 1A (HSAN-1A) with a unique phenotype of tongue fasciculation and atrophy, caused by a mutation at serine 331 in the SPTLC1 gene. The manifestation of tongue fasciculation and atrophy in HSAN-1A is rarely reported. Our findings contribute to the increasing evidence of an overlap between hereditary neuropathy and motor neuron disease caused by the pathogenic p.S331Y variant in the SPTLC1 gene.
NEUROLOGICAL SCIENCES
(2023)
Article
Pediatrics
Charles M. Lourenco, Andre Pessoa, Carmen C. Mendes, Carolina Rivera-Nieto, Diane Vergara, Monica Troncoso, Emily Gardner, Francisca Mallorens, Lina Tavera, Luis A. Lizcano, Nora Atanacio, Norberto Guelbert, Norma Specola, Nury Mancilla, Carolina F. M. de Souza, Sara E. Mole
Summary: Neuronal ceroid lipofuscinosis type 2 (CLN2) is a neurodegenerative lysosomal storage disorder primarily affecting children aged 2-4 years, with seizures, language abnormalities, and behavioral disorders being the first manifestations in atypical cases observed in Latin American patients at an older age of 6 years. Early diagnosis of CLN2 in children presenting with such symptoms is crucial for timely initiation of specific therapy.
JOURNAL OF PAEDIATRICS AND CHILD HEALTH
(2021)
Article
Endocrinology & Metabolism
Ana Gutierrez Alvarez, Naomi Yachelevich, Brenda Kohn, Preneet Cheema Brar
Summary: This study reports a case of severe hypertriglyceridemia in a 16-year-old female with FPLD3, treated with measures such as bowel rest, insulin infusion, plasmapheresis, low-fat diet, and fenofibrate. Genetic testing revealed a pathogenic variant in the PPARG gene, and the patient also had type 2 diabetes mellitus (T2DM).
ANNALS OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
(2021)
Article
Chemistry, Multidisciplinary
Zhihua Yu, Jichao Zhang, Shuhui Li, Zhijuan Zhou, Ziqi Qin, Hui Liu, Yuekun Lai, Shaohai Fu
Summary: In this study, a bio-inspired fog harvesting device with a switchable 2D-3D structure made of copper is reported. The device can efficiently capture and transport fog water, and it can dynamically transform its structure in response to humidity changes, enabling effective fog harvesting and water storage.
ADVANCED FUNCTIONAL MATERIALS
(2023)
Article
Engineering, Environmental
Xuanfei Xu, Tianxue Zhu, Weiwei Zheng, Caiyun Xian, Jianying Huang, Zhong Chen, Weilong Cai, Weiying Zhang, Yuekun Lai
Summary: In this study, a scraping technique was used to coat antifogging films on a substrate by utilizing a solution containing nanoparticles. The resulting hydrophilic coating showed excellent antifogging and self-healing properties, and it could withstand prolonged exposure to heat, ultraviolet radiation, sand impact, and solvent soaking. The simple construction approach could also be applied to various flexible and rigid substrates.
CHEMICAL ENGINEERING JOURNAL
(2023)
Article
Nanoscience & Nanotechnology
Fang Guo, Yueping Bao, Jiajun Mao, Yu Xie, Jianying Huang, Xiao Hu, Yuekun Lai
Summary: In this study, carboxyl-modified graphene oxide (GO-COOH) was prepared and deposited into flexible superwettable patterned cotton (SPC) for humidity sensing. The morphology of the as-prepared electronic-SPC (ESPC) was characterized, and the carboxylation process was investigated. The ESPC showed high sensitivity for humidity sensing, with a short response time and the output current increased with increasing relative humidity. The ESPC also exhibited high stability and durability, retaining its performance even after overnight washing and bending cycles. Additionally, it showed potential for wearable health monitoring.
ACS APPLIED NANO MATERIALS
(2023)
Article
Materials Science, Multidisciplinary
Tianxue Zhu, Lexin Liu, Jianying Huang, Shuhui Li, Yonggang Lei, Weilong Cai, Yuekun Lai, Huaqiong Li
Summary: This study successfully prepared a hydrophobic and conductive fabric-based strain sensor for smart fabric, which can be used as a strain sensor and wearable heater. The sensor exhibited a fast electrical response, excellent stability, and satisfactory electro-thermal and photo-thermal performances. It shows great potential for applications in medical monitoring and personal care.
JOURNAL OF MATERIALS SCIENCE & TECHNOLOGY
(2023)
Article
Engineering, Chemical
Yukui Gou, Yuanye Hao, Weilong Cai, Jianying Huang, Yuekun Lai
Summary: Particulate matter (PM) poses a significant threat to the environment and human health. Traditional air filters are not effective in harsh environments. This study provides a new design concept for three-dimensional high-efficiency air filters that can adapt to harsh conditions. The composite sponge made of PDMS sponge and ZIF-8 material efficiently removes particulate matter and demonstrates stable filtration performance and good adaptability.
Review
Anesthesiology
Maddlie Bardol, Shan Pan, Suellen M. Walker, Joseph F. Standing, Joy M. Dawes
Summary: Pharmacokinetic pharmacodynamic modeling is a valuable tool for understanding the relationship between drug concentration and effect, particularly in pediatric patients. It helps to identify variability among patients and adjust dosing for optimal pain management. Consideration of size and maturation is crucial in accurate modeling and determining optimal dose in different age groups. However, assessing analgesic and sedative effects in children can be challenging due to the multidimensional nature of pain and limitations of measurement tools.
PEDIATRIC ANESTHESIA
(2023)
Article
Engineering, Chemical
Weiwei Zheng, Shujing Lin, Yimeng Ni, Yukui Gou, Jianying Huang, Yuekun Lai
Summary: Transparent photothermal coatings play an increasingly important role in preventing icing in various fields. Previous research focused too much on achieving high photothermal performance at the expense of transparency. In this study, a liquid-like anti/deicing coating with excellent transparency was prepared using a unique combination of materials. This coating shows promise in anti/deicing scenarios where transparency is required.
INDUSTRIAL & ENGINEERING CHEMISTRY RESEARCH
(2023)
Review
Chemistry, Physical
Xuzheng Ji, Jianying Huang, Lin Teng, Shuhui Li, Xiao Li, Weilong Cai, Zhong Chen, Yuekun Lai
Summary: Airborne pollutants in particulate matter (PM) pose a significant threat to human health and effective virus filtration is crucial during the COVID-19 pandemic. This review provides an overview of PM, including its source, classification, filtration mechanisms, and evaluation parameters. Advanced filtration materials, such as polymers and MOFs, and their antibacterial performance are discussed. The application of PM filtration is divided into end-of-pipe treatment and source control, and future research prospects are presented in the conclusion.
GREEN ENERGY & ENVIRONMENT
(2023)
Article
Chemistry, Physical
Junqing Ye, Meizan Jing, Yu Liang, Wenjin Li, Wanting Zhao, Jianying Huang, Yuekun Lai, Weiyu Song, Jian Liu, Jian Sun
Summary: Exploring eco-friendly and cost-effective strategies for structure engineering at the nanoscale is important. In this study, multifunctional polyphenol tannic acid was used as a green reducing agent, chelating agent, and stabilizer to prepare Au nanoparticles dispersed on different-shaped CeO2 supports. The results revealed that the Au/CeO2-rod catalyst had the highest oxygen vacancy density and Ce(iii) proportion, leading to optimal catalytic performance in the nitrobenzene transfer hydrogenation reaction.
NANOSCALE HORIZONS
(2023)
Article
Chemistry, Multidisciplinary
Yingzhen Zhang, Wei Zhang, Yonggang Lei, Jianying Huang, Zhiqun Lin, Yuekun Lai
Summary: Iron-modified Ni(OH)2/NiSe2 catalyst exhibits superior selectivity, stability, and catalytic activity in urea oxidation reaction, as well as in oxidation reactions of other small molecules.
CHEMICAL COMMUNICATIONS
(2023)
Article
Engineering, Environmental
Jiajun Chen, Yimeng Ni, Yukui Gou, Tianxue Zhu, Lan Sun, Zhong Chen, Jianying Huang, Dapeng Yang, Yuekun Lai
Summary: Organogels have shown wide application prospects as adsorbent materials in the field of oil-water separation, with the ability to effectively treat oily wastewater in complex environments and high adsorption capacity and recyclability.
JOURNAL OF HAZARDOUS MATERIALS
(2024)
Article
Chemistry, Physical
Zhibin Zhang, Xi Wang, Hongyan Li, Gengchen Liu, Kaiying Zhao, Yajun Wang, Zheng Li, Jianying Huang, Zhiwei Xu, Yuekun Lai, Xiaoming Qian, Songnan Zhang
Summary: In this study, an innovative atmospheric water harvester combining hydrogel and 3D raised-fabric was developed, which exhibited excellent photothermal conversion performance and adsorption capacity, making it effective for water collection and storage.
JOURNAL OF COLLOID AND INTERFACE SCIENCE
(2024)
Article
Chemistry, Multidisciplinary
Yikun Liu, Yongju Gao, Beom Jin Kim, Meili Xia, Yunlong Zhou, Yongjing Zhang, Yang Li, Jianying Huang, Duxia Cao, Songfang Zhao, Jong-Hyun Ahn, Yuekun Lai
Summary: This study developed a stretchable bioinspired interactive platform that can quantitatively sense applied strains through variations in digital electrical resistance and visual fluorescence intensity. The platform exhibited excellent strain-sensing performance, stability, and sensitivity to mechanical stimuli. The fusion of digital data and visual images enabled important applications such as pulse detection, human motion tracking, and information encryption.
Article
Chemistry, Physical
Yingzhen Zhang, Denglong Ma, Yonggang Lei, Tianxue Zhu, Jun Hu, Yu Tang, Zhong Chen, Jianying Huang, Yuekun Lai, Zhiqun Lin
Summary: This study reports the substitution of oxygen evolution reaction (OER) with ammonia oxidation reaction (AOR) to enhance hydrogen evolution reaction (HER) efficiency. The experimental results demonstrate the important role of AOR in enhancing interfacial charge transfer and promoting active species generation. Compared to traditional OER-HER water splitting, the AOR-HER system shows a significant increase in hydrogen production.
Article
Engineering, Environmental
Fengjuan Xiong, Xi Wang, Yuanqian Liu, Zhibin Zhang, Tong Zhang, Hanchao Gao, Hiroshi Fu, Jianying Huang, Xiaoming Qian, Yuekun Lai, Songnan Zhang
Summary: The removal of oil mist is crucial for industrial processes and worker safety. A sustainable sandwich structure filter was developed, which showed high efficiency and low resistance. Results demonstrated that the filter maintained its ultra-high filtration efficiency even after continuous use for 50 and 100 cycles.
JOURNAL OF ENVIRONMENTAL CHEMICAL ENGINEERING
(2023)